RNF144A
ring finger protein 144A
Summary
This gene encodes a member of a family of RING finger domain-containing E3 ubiquitin ligases that also includes parkin and parc. The expression of this gene is induced by DNA damage. The encoded protein interacts with the cytoplasmic DNA-dependent protein kinase, catalytic subunit (DNA-PKcs) and promotes its degradation through ubiquitination. The orthologous mouse protein has been shown to interact with a ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Mar 2017]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs750986640 | 2:7,137,157 | A/G | — | uncertain significance |
| rs6741819 | 2:7,147,973 | C/T | regulatory region variant | — |
| rs389411 | 2:7,152,585 | C/T | regulatory region variant | — |
| rs201053961 | 2:7,154,633 | G/A | — | uncertain significance |
| rs150364218 | 2:7,154,873 | C/G | — | uncertain significance |
| rs1001892590 | 2:7,154,893 | A/C | — | uncertain significance |
| rs771611477 | 2:7,160,675 | G/A | — | likely benign |
| rs1671455005 | 2:7,160,704 | G/C | — | uncertain significance |
| rs377363682 | 2:7,160,718 | G/A | — | likely benign |
| rs978507136 | 2:7,160,776 | G/C | — | uncertain significance |
| rs377394188 | 2:7,160,787 | T/G | — | uncertain significance |
| rs144466433 | 2:7,164,525 | G/A | — | uncertain significance |
| rs771191884 | 2:7,164,528 | G/A | — | uncertain significance |
| rs772889501 | 2:7,164,551 | G/C | — | uncertain significance |
| rs2527436008 | 2:7,164,564 | A/G | — | uncertain significance |
| rs376219 | 2:7,164,578 | G/A | — | benign |
| rs184927662 | 2:7,164,584 | C/T | — | likely benign |
| rs391109 | 2:7,169,196 | A/G | regulatory region variant | — |
| rs563165809 | 2:7,170,283 | T/A | — | uncertain significance |
| rs2527459827 | 2:7,170,309 | G/A | — | uncertain significance |
| rs758365664 | 2:7,179,769 | A/G | — | uncertain significance |
| rs1384516484 | 2:7,179,823 | G/A | — | uncertain significance |
| rs2527503546 | 2:7,179,826 | A/G | — | uncertain significance |
| rs1340336030 | 2:7,179,878 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.